Linked Data
dbSNP Id:
rs779382892
ExAC:
2:31571718 G / A
gnomAD v2:
2-31571718-G-A
gnomAD v4:
2-31348852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31348852G>A , CM000664.2:g.31348852G>A | GRCh38 |
| NC_000002.11:g.31571718G>A , CM000664.1:g.31571718G>A | GRCh37 |
| NC_000002.10:g.31425222G>A | NCBI36 |
| NG_008871.1:g.70894C>T | |
| NG_008871.2:g.70894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.3051+47C>T MANE Select | ENSP00000368727.3:n.3051+47C>T | |
| ENST00000379416.3:c.3051+47C>T | ENSP00000368727.3:n.3051+47C>T | |
| NM_000379.3:c.3051+47C>T | NP_000370.2:n.3051+47C>T | |
| XM_011533095.1:c.3048+47C>T | XP_011531397.1:n.3048+47C>T | |
| XM_011533096.1:c.3051+47C>T | XP_011531398.1:n.3051+47C>T | |
| XM_011533095.2:c.3048+47C>T | XP_011531397.1:n.3048+47C>T | |
| XM_011533096.2:c.3051+47C>T | XP_011531398.1:n.3051+47C>T | |
| NM_000379.4:c.3051+47C>T MANE Select | NP_000370.2:n.3051+47C>T |